InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC6A19

Summary

InnateDB Protein

IDBP-10887.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC6A19

Protein Name

solute carrier family 6 (neutral amino acid transporter), member 19

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000305302

InnateDB Gene

IDBG-10885 (SLC6A19)

Protein Structure

UniProt Annotation

Function

Transporter that mediates epithelial resorption of neutral amino acids across the apical membrane of epithelial cells in the kidney and intestine. It appears that leucine is the preferred substrate, but all large neutral non-aromatic L-amino acids bind to this transporter. Uptake of leucine is sodium- dependent. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Hartnup disorder (HND) [MIM:234500]: Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria. {ECO:0000269PubMed:15286787, ECO:0000269PubMed:15286788}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hyperglycinuria (HG) [MIM:138500]: A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. {ECO:0000269PubMed:19033659}. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for hyperglycinuria.Iminoglycinuria (IG) [MIM:242600]: A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Note=The disease may be caused by mutations affecting the gene represented in this entry. SLC6A19 deficiency combined with haploinsufficiency of SLC6A20 or partially inactivating mutations in SLC36A2, can be responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families.

Tissue Specificity

Robust expression in kidney and small intestine, with minimal expression in pancreas. Also expressed in stomach, liver, duodenum, ileocecum, colon and prostate. Not detected in testis, whole brain, cerebellum, fetal liver, spleen, skeletal muscle, uterus, heart or lung. {ECO:0000269PubMed:15286787, ECO:0000269PubMed:15286788}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005328	neurotransmitter:sodium symporter activity
GO:0005515	protein binding
GO:0015175	neutral amino acid transmembrane transporter activity

Biological Process

GO:0006811	ion transport
GO:0006836	neurotransmitter transport
GO:0006865	amino acid transport
GO:0007584	response to nutrient
GO:0015804	neutral amino acid transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane
GO:0031526	brush border membrane
GO:0070062	extracellular vesicular exosome